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Human Molecular Genetics Advance Access originally published online on September 9, 2003
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Human Molecular Genetics, 2003, Vol. 12, No. 21 2745-2751
DOI: 10.1093/hmg/ddg311
© 2003 Oxford University Press

Linkage and association with pulmonary function measures on chromosome 6q27 in the Framingham Heart Study

Jemma B. Wilk1,2,*, Anita L. DeStefano1,3, Oscar Joost1,4, Richard H. Myers1, L. Adrienne Cupples3, Karen Slater5, Larry D. Atwood1,3, Nancy L. Heard-Costa1, Alan Herbert1, George T. O'Connor6 and Daniel J. Gottlieb2,6

1Neurology Department, Boston University School of Medicine, Boston, MA, USA, 2Research Service, Boston Veteran's Administration Medical Center, Boston, MA, USA, 3Biostatistics Department, Boston University School of Public Health, Boston, MA, USA, 4Applied Biosystems, Foster City, CA, USA, 5Department of Anatomy and Neurobiology, Boston University School of Medicine, Boston, MA, USA and 6The Pulmonary Center, Boston University Medical Center, Boston, MA, USA

Received May 30, 2003; Accepted August 27, 2003

Spirometric measures of pulmonary function have been shown to be highly heritable and evidence for major genes influencing forced expiratory volume in 1 s (FEV1) and forced vital capacity (FVC) have been reported. A genome scan of pulmonary traits in the Framingham Heart Study identified a region on chromosome 6qter with evidence for linkage to FEV1 and the FEV1/FVC ratio. For this study, additional markers were genotyped in the region to refine the location of linkage and test for association. Variance component linkage analysis was performed using GENEHUNTER, and family-based association tests were performed using FBAT. The chromosome 6 telomeric region provided significant evidence of linkage with the additional markers, resulting in a maximum multipoint LOD score of 5.0 for FEV1 at 184.5 cM. LOD scores for FVC and the FEV1/FVC ratio were also above 1.0 in this region. Evidence for association with FEV1 and FVC was observed with D6S281 at 190 cM. The strongest effect was seen with the 224 allele, which was associated with higher levels of FEV1 and FVC in allele carriers compared with those carrying other alleles. This study supports the presence of a gene influencing pulmonary function on the q-terminus of chromosome 6 in the region of 184 cM (D6S503) to 190 cM (D6S281).

* To whom correspondence should be addressed at: Boston University School of Medicine, 715 Albany Street, B-601, Boston, MA 02118, USA. Tel: +1 6176385105; Fax: +1 6176388076; Email: jwilk{at}bu.edu


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